{
    "disease_id": "DOID:0081131",
    "recommended_name": {
        "id": "DOID:0081131",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081131",
        "name": "BH4-deficient hyperphenylalaninemia D",
        "description": "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0081131",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0081131",
            "name": "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "pterin-4 alpha-carbinolamine dehydratase 1 deficiency",
            "description": "Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "CADH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "PCBD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "PCBD1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "PCD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "hyperphenylalaninemia due to dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "hyperphenylalaninemia with primapterinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "hyperphenylalaninemia, Bh4-deficient, type D",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "pterin-4 alpha-carbinolamine dehydratase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "HPABH4D",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "hyperphenylalaninemia, BH4-deficient, D",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "pterin-4 alpha-carbinolamine dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009908",
            "name": "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency",
            "description": ""
        },
        {
            "id": "MIM:264070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/264070",
            "name": "Hyperphenylalaninemia, BH4-deficient, D",
            "description": "Hyperphenylalaninemia, BH4-deficient, D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081131"
    ],
    "unlinked_id_list": []
}